Canonical Allele Identifier: CA67555242
Gene: ATG16L1 HGNC NCBI

Linked Data

dbSNP Id: rs778720985

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233274729C>G , CM000664.2:g.233274729C>G GRCh38
NC_000002.11:g.234183375C>G , CM000664.1:g.234183375C>G GRCh37
NC_000002.10:g.233848114C>G NCBI36
NG_023038.1:g.28159C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.905C>G MANE Select ENSP00000375872.4:p.Pro302Arg
ENST00000347464.9:c.416C>G ENSP00000318259.6:p.Pro139Arg
ENST00000373525.9:c.473C>G ENSP00000362625.5:p.Pro158Arg
ENST00000392017.8:c.905C>G ENSP00000375872.4:p.Pro302Arg
ENST00000392018.1:c.956C>G ENSP00000375873.1:p.Pro319Arg
ENST00000392020.8:c.848C>G ENSP00000375875.4:p.Pro283Arg
ENST00000392021.7:c.*786C>G ENSP00000375876.3:n.*786C>G
ENST00000419681.5:c.416C>G ENSP00000398773.1:p.Pro139Arg
ENST00000444735.5:c.524C>G ENSP00000409215.1:p.Pro175Arg
ENST00000474148.5:n.1700C>G
ENST00000479942.5:n.1051C>G
ENST00000492298.5:n.426C>G
ENST00000498620.5:n.412C>G
NM_001190266.1:c.653C>G NP_001177195.1:p.Pro218Arg
NM_001190267.1:c.557C>G NP_001177196.1:p.Pro186Arg
NM_017974.3:c.848C>G NP_060444.3:p.Pro283Arg
NM_030803.6:c.905C>G NP_110430.5:p.Pro302Arg
NM_198890.2:c.416C>G NP_942593.2:p.Pro139Arg
XM_005246082.1:c.956C>G XP_005246139.1:p.Pro319Arg
XM_005246084.1:c.524C>G XP_005246141.1:p.Pro175Arg
XM_005246086.1:c.473C>G XP_005246143.1:p.Pro158Arg
XM_006712608.1:c.704C>G XP_006712671.1:p.Pro235Arg
XR_241242.1:n.1150C>G
NM_001363742.1:c.956C>G NP_001350671.1:p.Pro319Arg
XM_005246084.2:c.524C>G XP_005246141.1:p.Pro175Arg
XM_005246086.2:c.473C>G XP_005246143.1:p.Pro158Arg
XM_006712608.3:c.704C>G XP_006712671.1:p.Pro235Arg
XR_001738801.2:n.1086C>G
XR_241242.3:n.1137C>G
NM_030803.7:c.905C>G MANE Select NP_110430.5:p.Pro302Arg
NM_001190266.2:c.653C>G NP_001177195.1:p.Pro218Arg
NM_001190267.2:c.557C>G NP_001177196.1:p.Pro186Arg
NM_001363742.2:c.956C>G NP_001350671.1:p.Pro319Arg
NM_017974.4:c.848C>G NP_060444.3:p.Pro283Arg
NM_198890.3:c.416C>G NP_942593.2:p.Pro139Arg